S82S (p.Ser82Ser) variant of CYBB (NADPH oxidase 2)
S82S (p.Ser82Ser) in CYBB (NADPH oxidase 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S82S (p.Ser82Ser) variant details
- p.Ser82Ser
- rs1569478708
- gnomAD X-37783594-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 12.00
- Most common in the Middle Eastern population (allele frequency 0.00025)
- Structural context available
- Literature evidence available